Hypertelorism

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

EFNB1, ACOX1, KAT6B, SPECC1L, SIK3, MED13L, DICER1, GRIP1, TGDS, SUZ12, ATP6V0A2, RPGRIP1L, PIGN, LEMD3, POLR1A, SIN3A, SH2B1, PARS2, SMCHD1, CAMTA1, WDR4, MRAS, TXNL4A, CIT, POLR3A, IL1RAPL1, AP4S1, MAN1B1, CHSY1, KIAA0556, IQSEC2, SPART, NFASC, POGZ, MAPK8IP3, PACS2, NSMF, SETBP1, AUTS2, TCTN3, PSAT1, EFEMP2, VSX1, SLC45A1, SOST, TPRKB, WDPCP, POLR1D, RLIM, TMEM216, RSRC1, WAC, ACTL6B, PTRH2, SUFU, SLC25A24, DSE, BLNK, FOXP1, KIFBP, PHGDH, B3GAT3, FGF20, ELP4, B9D1, AFF4, ANKRD11, INTU, AHDC1, PGAP2, CCDC22, SETD2, UBE2T, CPLX1, ZMYND11, RIPK4, ADAMTS3, DPM1, FGF17, CACNA1G, HERC1, SEMA5A, FIBP, TRIP12, TRIP4, SNAP29, COG1, HS6ST1, RECQL4, EIF2AK3, CHST3, PIGL, CCNK, GPAA1, EED, OFD1, RBM10, SMC1A, LAGE3, TRRAP, LTBP4, OGT, PEX3, PTCH2, CNTNAP1, ITGA8, CDK10, CASK, CDK13, DCHS1, TBX4, POLR1C, RAI1, SEC24C, IRX5, ZMPSTE24, APC2, KLHL41, MAD2L2, ZBTB18, SEC23A, FBLN5, DEAF1, COLEC10, STAMBP, SPINT2, EBP, TBR1, SIX2, LRPPRC, ABCC9, GNE, ZBTB24, TTC37, SEMA3E, TMEM94, KIAA0586, PTDSS1, ZEB2, KIAA0753, AKT3, RUSC2, SEC24D, FIG4, WASHC5, MED12, SLC12A6, FGFRL1, TMCO1, LZTR1, TP53RK, TMEM107, SLX4, KISS1R, MYPN, PIGO, TMEM87B, WDR73, PIGY, COL27A1, UBE3B, RSPRY1, TICRR, TMEM67, STRADA, PGAP3, ANTXR1, KIAA1109, BRIP1, FBXO11, CSPP1, TCTN2, ALG13, GREB1L, FRAS1, CEP290, B9D2, CDCA7, ASXL3, SLC2A10, SPRY4, MED25, DDX59, TRAPPC9, IFT43, CHST14, BNC2, C12orf57, PHACTR1, EBF3, NALCN, KANSL1, PIGW, DOK7, SH3PXD2B, FAM149B1, FREM2, CTU2, KIF7, KBTBD13, GTF2H5, RNU4ATAC, TTN-AS1, JMJD1C, TUBB, TAPT1, B3GLCT, TWIST2, PROKR2, DNAJC21, MPLKIP, AMER1, A2ML1, CCBE1, FLCN, CEP120, ESCO2, FREM1, SPRED1, BMPER, ASXL1, EHMT1, ALG9, PALB2, TBL1XR1, NUP133, NGLY1, ERMARD, MCTP2, CENPJ, HDAC8, KLHL7, SMG9, ALG1, ANKH, LRRC8A, FAM20C, KIF15, CCDC47, KNL1, WDR11, TENM3, VAC14, CEP55, QRICH1, NSUN2, MKS1, PHIP, FANCL, RFWD3, FANCI, PACS1, ASXL2, SLC29A3, CHD7, OSGEP, PIGV, PEX26, RPGRIP1, NUP107, SALL4, BCL11B, FAM111A, MRPS14, XYLT2, NSD1, LMBR1, NXN, TMEM237, BCORL1, CPLANE1, COLEC11, ALG8, TMEM231, FAT4, SRD5A3, PIEZO2, PROK2, THOC2, WDR35, ADGRG6, GATAD2B, TBC1D24, SHROOM4, ARID1B, HACE1, CC2D2A, ALX4, DOCK6, CHD8, ZSWIM6, FANCM, EPG5, KMT2C, USP9X, ALX1, ACTA1, GNRH1, FOXE3, FLI1, FLII, FLNA, FLNB, MTOR, FUCA1, FZD2, GATA6, GBA, GJA1, GK, GPC3, GLB1, GLE1, FOXC1, FH, FGFR2, FBN1, FANCD2, FANCE, BPTF, FANCB, FANCF, FANCG, GPC4, FGFR3, FGD1, FGF3, FGF8, FGF10, FGF14, FGFR1, GLI3, GNRHR, FANCA, GP1BB, KISS1, KRAS, LBR, LETM1, LIG4, LMNA, LOX, LRP2, LRP4, LRP5, SMAD3, SMAD4, MAF, MAT2A, MEF2C, KCNJ2, KCNH1, ANOS1, HNRNPU, GTF2E2, H3-3A, HBA1, HBA2, HELLS, HNRNPH2, HRAS, ITGA3, HSD17B4, HSPG2, IGHM, IGLL1, INPPL1, INSR, FANCC, EZH2, HMGA2, CENPF, BGN, BMP2, BMPR1A, BRCA1, BRAF, BRCA2, BUB1B, CAMK2A, RUNX2, CBL, CCND2, CD79A, CD79B, CDC42, CDH1, NKX3-2, AVP, ATRX, JAG1, ACTA2, ACTB, ACTG1, ACY1, ADK, AGA, AKT1, ATP6V1E1, ALX3, ANK1, APC, ARVCF, ATP6V1A, ATP6V1B2, CDH11, CHD3, EXT2, CHD4, DLX4, DNMT3A, DNMT3B, DPH1, SLC26A2, DUSP6, DVL1, DVL3, DYRK1A, MEGF8, ELN, ERCC2, ERCC3, ERCC4, ERF, DHCR7, DDX3X, CTNND2, COL2A1, CHRNA1, CHRND, CHRNG, CNTN1, COL1A1, COL1A2, COL3A1, CTNND1, COL11A1, COL11A2, COMT, COX7B, CSNK2A1, CTBP1, MID1, KMT2A, MLLT1, TAZ, SET, SIM1, SKI, SKIV2L, SMO, SMS, SOS1, SOS2, SOX9, SOX10, STAT3, STIM1, TAC3, TACR3, MAP3K7, SCN1A, RYR1, RREB1, RET, RAD51C, RAF1, RAPSN, RASA2, RB1, DPF2, RIT1, RRAS, RMRP, RPL5, RPL35A, RPS6KA3, RPS7, RPS19, TBX1, TBCD, MMP2, TBCE, UFD1, UMPS, WHCR, NSD2, NELFA, WNT5A, XRCC2, YWHAE, ZIC1, ZIC3, RNF113A, BRPF1, SHOC2, PDHX, MFAP5, UBE2A, TWIST1, HIRA, TFAP2B, TBX2, TBX15, TCF3, TCF12, TCOF1, TFAP2A, TGFB2, TTN, TGFB3, TGFBR1, TGFBR2, THRA, TPM2, TPM3, RAD51, ALDH18A1, PYCR1, PEX5, TRIM37, MUSK, MYH3, MYH11, MYLK, MYOD1, NEB, NF1, NFIX, TONSL, NONO, NOTCH2, NOTCH3, NRAS, ROR2, TRNW, TRNS2, TRNS1, COX3, ALDH6A1, MOCS1, MOCS2, ATP6, COX1, COX2, ND1, TRNQ, ND4, ND5, ND6, TRNF, TRNH, TRNL1, DDR2, NUP88, PAFAH1B1, PRPS1, PPP2R5D, PPP3CA, PRKAR1A, PRKG1, MAP2K1, MAP2K2, MASP1, PPP2CA, PSMD12, PTCH1, PTEN, PTH1R, PTPN11, PEX2, PPP2R1A, PPP1CB, PAX3, PIGA, PAX6, PDE4D, PDE6D, PEPD, PEX1, PEX6, PIK3CA, POR, PIK3R1, PIK3R2, PITX2, PMM2, EXOSC9, POLR2F, SCN1A-AS1

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Description

Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (145410), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).

Pathogenesis

Hypertelorism may be the consequence of arrest in development of the greater wings of the sphenoid, making them smaller than the lesser wings and thus fixing the orbits in the widely separated fetal position (summary by Cohen et al., 1995).

Inheritance

Bojlen and Brems (1938) traced hypertelorism through 5 generations in a pattern consistent with autosomal dominant inheritance. Friede (1954) described affected mother and daughter.